Open AccessA Case of Hyperargininaemia Presenting at Unusually Low Age
Author(s) -
. LAL,
Daisy Khera,
Gopila Gupta,
Kuldeep Singh,
Praveen Sharma
Publication year - 2017
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2017/29270.10263
Subject(s) - urea cycle , failure to thrive , arginase , glutamine , arginine , malnutrition , ammonia , urea , medicine , severe acute malnutrition , glutamine synthetase , pediatrics , endocrinology , gastroenterology , amino acid , chemistry , biochemistry
Arginase or ARG1 gene deficiency is a Type V Urea Cycle Disorder (UCD) (catalysing the fifth reaction of urea cycle), associated with hyperammonaemia. Here, we discuss a rare case of a 13-month-old female, having Severe Acute Malnutrition (SAM) and failure to thrive, with serial high plasma ammonia, normal plasma lactate with high arginine and glutamine levels on Amino Acid Assay (AAA) which was performed on 1220 Agilent HPLC. She was admitted for about a month and eventually succumbed to her ailment after a month of discharge.